North Carolina Newborn Exome Sequencing for Universal Screening
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Other Indications, Other Indications, Women's Studies |
| Therapuetic Areas: | Other, Reproductive |
| Healthy: | No |
| Age Range: | Any - 5 |
| Updated: | 3/8/2019 |
| Start Date: | June 2016 |
| End Date: | June 30, 2019 |
The NC NEXUS research study is exploring the utility of next generation sequencing in newborn
screening and parental decision making. The National Institutes of Health (NICHD and NHGRI)
are co-funding this study under a single U-19.
screening and parental decision making. The National Institutes of Health (NICHD and NHGRI)
are co-funding this study under a single U-19.
The investigators will enroll and perform whole exome sequencing on two cohorts of patients.
One cohort will consist of two hundred newborns with no known conditions whose parents will
be recruited during the mother's pregnancy. The second cohort will include two hundred
infants and children up to the age of five years with diagnosed conditions including
conditions detected through standard newborn screening such as phenylketonuria and other
inborn errors of metabolism, hearing loss and other rare conditions that may fit criteria for
newborn screening in the future.
Parents will be introduced to the study by their clinician or a study recruiter. Those who
agree to enroll in Phase I will review an online decision guide and be offered a study visit
conducted by a genetic counselor to obtain informed consent for genomic sequencing of their
child. Parents consenting to have their child's genome sequenced will be seen after the
child's birth or at a convenient pre-arranged time and duplicate saliva samples will be
collected from the children and one sample will be sent to the BioSpecimen Processing (BSP)
Facility and to Dr. Jonathan Berg's laboratory for sequencing and the other sent to the
Molecular Genetics Laboratory (MGL) for DNA extraction and storage until needed for clinical
confirmation. Results will be returned for diagnostic (in the Diagnosed cohort) and medically
actionable disorders of childhood (both cohorts). Two-thirds of parents who consent to
sequencing will be randomly assigned to be eligible to request additional findings and use a
supplement of the online decision aid. All results will be reported to parents by trained
genetic professionals (genetic counselors and clinical geneticists)
One cohort will consist of two hundred newborns with no known conditions whose parents will
be recruited during the mother's pregnancy. The second cohort will include two hundred
infants and children up to the age of five years with diagnosed conditions including
conditions detected through standard newborn screening such as phenylketonuria and other
inborn errors of metabolism, hearing loss and other rare conditions that may fit criteria for
newborn screening in the future.
Parents will be introduced to the study by their clinician or a study recruiter. Those who
agree to enroll in Phase I will review an online decision guide and be offered a study visit
conducted by a genetic counselor to obtain informed consent for genomic sequencing of their
child. Parents consenting to have their child's genome sequenced will be seen after the
child's birth or at a convenient pre-arranged time and duplicate saliva samples will be
collected from the children and one sample will be sent to the BioSpecimen Processing (BSP)
Facility and to Dr. Jonathan Berg's laboratory for sequencing and the other sent to the
Molecular Genetics Laboratory (MGL) for DNA extraction and storage until needed for clinical
confirmation. Results will be returned for diagnostic (in the Diagnosed cohort) and medically
actionable disorders of childhood (both cohorts). Two-thirds of parents who consent to
sequencing will be randomly assigned to be eligible to request additional findings and use a
supplement of the online decision aid. All results will be reported to parents by trained
genetic professionals (genetic counselors and clinical geneticists)
Inclusion Criteria:
- Uncomplicated pregnancy and healthy newborn
Exclusion Criteria:
- Abnormalities such as major malformation or chromosomal disorder detected prenatally
or significant complications during pregnancy or at the time of delivery.
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